Relationship Of Plasma Homocysteine And The Gene Polymorphism Of Metabolic Enzymes With Neural Tube Defects

Objective To investigate the relationship of plasma homocysteine and the gene polymorphism of N5, N10-methylentetrahydrofolate reductase(MTHFR), methionine synthase reductase(MTRR) with Neural Tube Defects.Methods The plasma HCY was measured by means of SMT, the polymorphism of C677T and A1298C of MTHFR and A66G of MTRR gene were analyzed by a combination of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 63 mother of NTDs patients and 60 female health control; the plasma total homocysteine levels were measure using technology of Small Molecular Trapping.Result (1) There have significant differences of genotypes (OR=1.871,95%CI=1.127-3.014) and the allele frequencies (OR=2.288,95%CI=1.005-5.210) of MTHFRC677T between control and cases, while MTHFRA1298C and MTRRA66G have no significant differences of genotypes and the allele frequencies. (2) When statistical test for interaction were conduct, three genes combination were shown to elevate NTDs risk. (3) The plasma HCY in cases(15.238±6.739) was significantly higher than in controls(10.183±4.739). (4) The plasma level of HCY was markedly higher in the subjects with homozygous allele than that in the subjects with common allele.Conclusion①MTHFRC677T may be the independent genetical risk factors of NTDs while MTHFR A1298C and MTRRA66G may not be.②But MTHFR A1298C and MTRRA66G may elevate NTDs risk combine with MTHFRC677T and they can may be the assistant genetical risk factors of NTDs.③The high level of Hcy is a probably risk factor of NTDs.④The polymorphism genetics may through plasma HCY elevate risk of NTDs.